Markus Zweier
University of Zurich(CH)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Chromatin Remodeling and Cancer, Congenital heart defects research
Most-Cited Works
- → CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila(2009)345 cited
- → Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability(2012)264 cited
- → Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression(2010)179 cited
- → SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited
- → Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development(2018)114 cited
- → Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity(2011)93 cited
- → Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly(2019)82 cited
- → Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy(2017)78 cited
- → Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures(2019)73 cited
- → The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study(2018)72 cited